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貨期:
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用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
E3 ubiquitin-protein ligase that mediates monoubiquitination of TSG101 at multiple sites, leading to inactivate the ability of TSG101 to sort endocytic (EGF receptors) and exocytic (HIV-1 viral proteins) cargos. Bacterial recognition protein that defends the cytoplasm from invasive pathogens. Localizes to several intracellular bacterial pathogens and generates the bacteria-associated ubiquitin signal leading to autophagy-mediated intracellular bacteria degradation (xenophagy).
基因功能參考文獻(xiàn):
We identified a novel LRSAM1 missense mutation (c.2120C > T, p.Pro707Leu) mapping to the RING domain. The identified missense mutation, as well as of another recently reported pathogenic missense mutation (c.2081G > A, p.Cys694Tyr), revealed that in vitro ubiquitylation activity was largely abrogated. PMID: 28335037
findings suggest that the mutant LRSAM1 may aberrantly affect the formation of transcription machinery. PMID: 27615052
findings demonstrate that the isolated genetic entity Charcot-Marie-Tooth type 2G is caused by a missense mutation in LRSAM1. PMID: 27686364
LRSAM1 exhibited self-association in vitro and in vivo. The study found the self-association of LRSAM1 promotes intermolecular ubiquitination and proved a potential N-terminal ubiquitination. PMID: 28189685
disruption of the C-terminal RING domain confers dominant negative properties to LRSAM1 PMID: 24894446
Our data further confirms that LRSAM1 mutations are associated with CMT2 of AD inheritance. PMID: 22781092
Authors identify LRSAM1 as the E3 ligase responsible for anti-Salmonella autophagy-associated ubiquitination. PMID: 23245322
homozygous mutation in LRSAM1 was proposed as a strong candidate for the disease in a family with recessive axonal polyneuropathy PMID: 22012984
LRSAM1 as a component of the antibacterial autophagic response. PMID: 20616063
LRSAM1 is a strong candidate for the causal gene for the Charcot-Marie-Tooth disease. PMID: 20865121
Results suggest that RIFLE represents a novel signaling protein that mediates components of the Wnt/wingless signaling pathway and cell adhesion in PC12 cells [RIFLE protein]. PMID: 14635195
Tal regulates a Tsg101-associated complex responsible for the sorting of cargo into cytoplasm-containing vesicles that bud at the multivesicular body and at the plasma membrane PMID: 15256501
Tal polyubiquitinates lysine residues in the C-terminus of uncomplexed Tsg101, resulting in proteasomal degradation. PMID: 18077552
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相關(guān)疾病:
Charcot-Marie-Tooth disease 2P (CMT2P)
亞細(xì)胞定位:
Cytoplasm.
組織特異性:
Highly expressed in adult spinal cord motoneurons as well as in fetal spinal cord and muscle tissue.